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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2574631806
Gene: PDE6C
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.93626680del , CM000672.2:g.93626680del
GRCh38
NC_000010.10:g.95386437del , CM000672.1:g.95386437del
GRCh37
NC_000010.9:g.95376427del
NCBI36
NG_016752.1:g.19093del
Transcript Alleles
HGVS
Amino-acid change
ENST00000371447.4:c.980del
MANE Select
ENSP00000360502.3:p.Gly327GlufsTer7
ENST00000371447.3:c.980del
ENSP00000360502.3:p.Gly327GlufsTer7
NM_006204.3:c.980del
NP_006195.3:p.Gly327GlufsTer7
NM_006204.4:c.980del
MANE Select
NP_006195.3:p.Gly327GlufsTer7
Search 100 bp 5'
Search 100 bp 3'